Download or read book Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and published by Jessica Kingsley Publishers. This book was released on 2011-08-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.
Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. - Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities - Describes the genes implicated in autistic spectrum disorders and their function - Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies - Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field
Download or read book Towards Mechanism based Treatments for Fragile X Syndrome written by Daman Kumari and published by MDPI. This book was released on 2019-09-18 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
Download or read book Fragile X Syndrome and Premutation Disorders written by Randi Jenssen Hagerman and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.
Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.
Download or read book Outcomes in Neurodevelopmental and Genetic Disorders written by Patricia Howlin and published by Cambridge University Press. This book was released on 2002-07-25 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Succinct, up-to-date research summaries and practical guidelines for intervention in and management of a variety of developmental and genetic disorders.
Download or read book Guide to Intellectual Disabilities written by Julie P. Gentile and published by Springer. This book was released on 2019-02-07 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers a curriculum of topics for treating patients with co-occurring intellectual disabilities and mental illness, better known as dual diagnosis (DD). Though these patients represent approximately three percent of the population, they are largely underserved due to a huge gap in the literature and limited training on this topic among non-psychiatric practitioners. They are often medically fragile and have co-occurring seizure disorders and other neurologic conditions, frequently presenting to psychiatrists with behavior problems when in fact they have undiagnosed, under-diagnosed or undertreated medical conditions. A medical professional who is not trained to spot the nuanced symptoms can therefore be unprepared to work with such patients. They may misdiagnose, inappropriately prescribe medications, and fail to employ the best practices as a result. This is particularly problematic because such patients often function at significantly higher levels when accurately diagnosed and appropriately treated. Written by experts in the field, this text covers the psychiatric and medical assessment of DD patients, neurologic conditions, interviewing techniques, medications, and other topics that DD patients may present with. The book also covers a myriad of other issues surrounding DD patients that physicians often struggle with, including DD patients at the interface of the legal system, human rights concerns, tips for working with families and caregivers, and general ethical considerations. The text is specifically designed for physicians who may need quick access to information in either print or digital form. Each chapter opens with case vignettes to easily demonstrate each particular scenario and is followed up with concise, practical information. All chapters include tables that summarize the clinical pearls as well as the DSM-5 and DM-ID diagnostic criteria that is most vital to care, making this an excellent resource in both the classroom and in a treatment setting. This book offers a pathway to accurate diagnosis and treatment, leaving psychiatrists and trainees better prepared to offer the full range of mental health treatment for their dual diagnosis patients.
Download or read book Jasper s Basic Mechanisms of the Epilepsies written by Jeffrey Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.
Download or read book Fragile X Syndrome written by Rob Willemsen and published by Academic Press. This book was released on 2017-05-26 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018) - Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome - Written for academic researchers, pharmaceutical investigators, and clinicians in the field - Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome - Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
Download or read book Allelic Forms of the FMR1 Gene written by Montserrat Milà and published by Nova Science Publishers. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counselling, new-born screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counselling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.
Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
